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Haplotype-aware Detection of SERPINA1 Variants by Nanopore Sequencing

Mario A. Gonzalez-Carracedo,Esther Herrera-Luis, Maria Marco-Simancas, Ainhoa Escuela-Escobar,Elena Martin-Gonzalez,Olaia Sardon-Prado,Paula Corcuera,Jose M. Hernandez-Perez,Fabian Lorenzo-Diaz,Jose A. Perez-Perez

JOURNAL OF MOLECULAR DIAGNOSTICS（2024）

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Key words
Alpha-1 antitrypsin,SERPINA1,nanopore sequencing,multiplexing,haplotypes
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